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Gene ARID1A
Variant G1847fs
Impact List frameshift
Protein Effect loss of function - predicted
Gene Variant Descriptions ARID1A G1847fs results in a change in the amino acid sequence of the Arid1a protein beginning at aa 1847 of 2285, likely resulting in premature truncation of the functional protein (UniProt.org). G1847fs results in a loss of Arid1a protein expression in a patient sample (PMID: 32868822), but has not been fully biochemically characterized, however, due to the effects of other truncation mutations downstream of G1847 (PMID: 29736026), is predicted to lead to a loss of Arid1a protein function.
Associated Drug Resistance
Category Variants Paths

ARID1A mutant ARID1A inact mut ARID1A G1847fs

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Transcript NM_006015.6
gDNA chr1:g.(26779436_26779437)
cDNA c.(5539_5538)
Protein p.G1847fs
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_006015.5 chr1:g.(26779436_26779437) c.(5539_5538) p.G1847fs RefSeq GRCh38/hg38
NM_006015.6 chr1:g.(26779436_26779437) c.(5539_5538) p.G1847fs RefSeq GRCh38/hg38

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References